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Items: 1 to 50 of 70

1.

Diagnostic utility of transcriptome sequencing for rare Mendelian diseases.

Lee H, Huang AY, Wang LK, Yoon AJ, Renteria G, Eskin A, Signer RH, Dorrani N, Nieves-Rodriguez S, Wan J, Douine ED, Woods JD, Dell'Angelica EC, Fogel BL, Martin MG, Butte MJ, Parker NH, Wang RT, Shieh PB, Wong DA, Gallant N, Singh KE, Tavyev Asher YJ, Sinsheimer JS, Krakow D, Loo SK, Allard P, Papp JC; Undiagnosed Diseases Network, Palmer CGS, Martinez-Agosto JA, Nelson SF.

Genet Med. 2019 Oct 14. doi: 10.1038/s41436-019-0672-1. [Epub ahead of print]

PMID:
31607746
2.

Coatopathies: Genetic Disorders of Protein Coats.

Dell'Angelica EC, Bonifacino JS.

Annu Rev Cell Dev Biol. 2019 Oct 6;35:131-168. doi: 10.1146/annurev-cellbio-100818-125234. Epub 2019 Aug 9.

PMID:
31399000
3.

Sleep/Wake Disruption in a Mouse Model of BLOC-1 Deficiency.

Lee FY, Wang HB, Hitchcock ON, Loh DH, Whittaker DS, Kim YS, Aiken A, Kokikian C, Dell'Angelica EC, Colwell CS, Ghiani CA.

Front Neurosci. 2018 Nov 15;12:759. doi: 10.3389/fnins.2018.00759. eCollection 2018.

4.

BLOC-1 deficiency causes alterations in amino acid profile and in phospholipid and adenosine metabolism in the postnatal mouse hippocampus.

van Liempd SM, Cabrera D, Lee FY, González E, Dell'Angelica EC, Ghiani CA, Falcon-Perez JM.

Sci Rep. 2017 Jul 12;7(1):5231. doi: 10.1038/s41598-017-05465-z.

5.

Immunoprecipitation.

Bonifacino JS, Gershlick DC, Dell'Angelica EC.

Curr Protoc Cell Biol. 2016 Jun 1;71. doi: 10.1002/cpcb.3.

PMID:
27245424
6.

Melanosomes made from recycling (endosomes): A tubule-stabilizing function revealed for Biogenesis of Lysosome-related Organelles Complex-1.

Dell'Angelica EC.

Pigment Cell Melanoma Res. 2016 May;29(3):258-9. doi: 10.1111/pcmr.12456. Epub 2016 Feb 29. No abstract available.

PMID:
26801347
7.

Identification of Atg2 and ArfGAP1 as Candidate Genetic Modifiers of the Eye Pigmentation Phenotype of Adaptor Protein-3 (AP-3) Mutants in Drosophila melanogaster.

Rodriguez-Fernandez IA, Dell'Angelica EC.

PLoS One. 2015 Nov 13;10(11):e0143026. doi: 10.1371/journal.pone.0143026. eCollection 2015.

8.

Myosin vc interacts with Rab32 and Rab38 proteins and works in the biogenesis and secretion of melanosomes.

Bultema JJ, Boyle JA, Malenke PB, Martin FE, Dell'Angelica EC, Cheney RE, Di Pietro SM.

J Biol Chem. 2014 Nov 28;289(48):33513-28. doi: 10.1074/jbc.M114.578948. Epub 2014 Oct 16.

9.

Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome.

Arboleda VA, Lee H, Parnaik R, Fleming A, Banerjee A, Ferraz-de-Souza B, Délot EC, Rodriguez-Fernandez IA, Braslavsky D, Bergadá I, Dell'Angelica EC, Nelson SF, Martinez-Agosto JA, Achermann JC, Vilain E.

Nat Genet. 2012 May 27;44(7):788-92. doi: 10.1038/ng.2275.

10.

Dysbindin-containing complexes and their proposed functions in brain: from zero to (too) many in a decade.

Ghiani CA, Dell'Angelica EC.

ASN Neuro. 2011 May 27;3(2). pii: e00058. doi: 10.1042/AN20110010. Review.

11.

Functional interactions between OCA2 and the protein complexes BLOC-1, BLOC-2, and AP-3 inferred from epistatic analyses of mouse coat pigmentation.

Hoyle DJ, Rodriguez-Fernandez IA, Dell'angelica EC.

Pigment Cell Melanoma Res. 2011 Apr;24(2):275-81. doi: 10.1111/j.1755-148X.2010.00815.x. Epub 2010 Dec 17.

12.

Early origin of genes encoding subunits of biogenesis of lysosome-related organelles complex-1, -2 and -3.

Cheli VT, Dell'Angelica EC.

Traffic. 2010 May;11(5):579-86. doi: 10.1111/j.1600-0854.2010.01044.x. Epub 2010 Jan 20.

13.

Genetic modifiers of abnormal organelle biogenesis in a Drosophila model of BLOC-1 deficiency.

Cheli VT, Daniels RW, Godoy R, Hoyle DJ, Kandachar V, Starcevic M, Martinez-Agosto JA, Poole S, DiAntonio A, Lloyd VK, Chang HC, Krantz DE, Dell'Angelica EC.

Hum Mol Genet. 2010 Mar 1;19(5):861-78. doi: 10.1093/hmg/ddp555. Epub 2009 Dec 16.

14.

The dysbindin-containing complex (BLOC-1) in brain: developmental regulation, interaction with SNARE proteins and role in neurite outgrowth.

Ghiani CA, Starcevic M, Rodriguez-Fernandez IA, Nazarian R, Cheli VT, Chan LN, Malvar JS, de Vellis J, Sabatti C, Dell'Angelica EC.

Mol Psychiatry. 2010 Feb;15(2):115, 204-15. doi: 10.1038/mp.2009.58. Epub 2009 Jun 23.

15.

AP-3-dependent trafficking and disease: the first decade.

Dell'Angelica EC.

Curr Opin Cell Biol. 2009 Aug;21(4):552-9. doi: 10.1016/j.ceb.2009.04.014. Epub 2009 Jun 3. Review.

PMID:
19497727
16.

Localization to mature melanosomes by virtue of cytoplasmic dileucine motifs is required for human OCA2 function.

Sitaram A, Piccirillo R, Palmisano I, Harper DC, Dell'Angelica EC, Schiaffino MV, Marks MS.

Mol Biol Cell. 2009 Mar;20(5):1464-77. doi: 10.1091/mbc.E08-07-0710. Epub 2008 Dec 30.

17.

A data-mining approach to rank candidate protein-binding partners-The case of biogenesis of lysosome-related organelles complex-1 (BLOC-1).

Rodriguez-Fernandez IA, Dell'Angelica EC.

J Inherit Metab Dis. 2009 Apr;32(2):190-203. doi: 10.1007/s10545-008-1014-7. Epub 2008 Dec 12.

18.

Immunoprecipitation.

Bonifacino JS, Dell'Angelica EC, Springer TA.

Curr Protoc Immunol. 2001 May;Chapter 8:Unit 8.3. doi: 10.1002/0471142735.im0803s41.

PMID:
18432858
19.

Immunoprecipitation.

Bonifacino JS, Dell'Angelica EC, Springer TA.

Curr Protoc Protein Sci. 2001 May;Chapter 9:Unit 9.8. doi: 10.1002/0471140864.ps0908s18.

PMID:
18429217
20.

Immunoprecipitation.

Bonifacino JS, Dell'Angelica EC, Springer TA.

Curr Protoc Neurosci. 2006 May;Chapter 5:Unit 5.24. doi: 10.1002/0471142301.ns0524s35.

PMID:
18428640
21.

Immunoprecipitation.

Bonifacino JS, Dell'Angelica EC, Springer TA.

Curr Protoc Mol Biol. 2001 May;Chapter 10:Unit 10.16. doi: 10.1002/0471142727.mb1016s48.

PMID:
18265056
22.

Immunoprecipitation.

Bonifacino JS, Dell'Angelica EC.

Curr Protoc Cell Biol. 2001 May;Chapter 7:Unit 7.2. doi: 10.1002/0471143030.cb0702s00.

PMID:
18228380
23.

Staining proteins in gels.

Dell'Angelica EC, Bonifacino JS.

Curr Protoc Cell Biol. 2001 May;Chapter 6:Unit 6.6. doi: 10.1002/0471143030.cb0606s06.

PMID:
18228378
24.

An immunoblotting assay to facilitate the molecular diagnosis of Hermansky-Pudlak syndrome.

Nazarian R, Huizing M, Helip-Wooley A, Starcevic M, Gahl WA, Dell'Angelica EC.

Mol Genet Metab. 2008 Feb;93(2):134-44. Epub 2007 Oct 22.

25.
26.

Bad signals jam organelle traffic.

Dell'Angelica EC.

Nat Med. 2007 Jan;13(1):31-2. No abstract available.

PMID:
17206132
27.

BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles.

Setty SR, Tenza D, Truschel ST, Chou E, Sviderskaya EV, Theos AC, Lamoreux ML, Di Pietro SM, Starcevic M, Bennett DC, Dell'Angelica EC, Raposo G, Marks MS.

Mol Biol Cell. 2007 Mar;18(3):768-80. Epub 2006 Dec 20. Erratum in: Mol Biol Cell. 2017 Feb 1;28(3):500.

28.

The Drosophila pigmentation gene pink (p) encodes a homologue of human Hermansky-Pudlak syndrome 5 (HPS5).

Falcón-Pérez JM, Romero-Calderón R, Brooks ES, Krantz DE, Dell'Angelica EC.

Traffic. 2007 Feb;8(2):154-68. Epub 2006 Dec 7.

29.

BLOC-1 interacts with BLOC-2 and the AP-3 complex to facilitate protein trafficking on endosomes.

Di Pietro SM, Falcón-Pérez JM, Tenza D, Setty SR, Marks MS, Raposo G, Dell'Angelica EC.

Mol Biol Cell. 2006 Sep;17(9):4027-38. Epub 2006 Jul 12.

30.

BLOC-1 complex deficiency alters the targeting of adaptor protein complex-3 cargoes.

Salazar G, Craige B, Styers ML, Newell-Litwa KA, Doucette MM, Wainer BH, Falcon-Perez JM, Dell'Angelica EC, Peden AA, Werner E, Faundez V.

Mol Biol Cell. 2006 Sep;17(9):4014-26. Epub 2006 Jun 7.

31.
32.

Distribution and dynamics of Lamp1-containing endocytic organelles in fibroblasts deficient in BLOC-3.

Falcón-Pérez JM, Nazarian R, Sabatti C, Dell'Angelica EC.

J Cell Sci. 2005 Nov 15;118(Pt 22):5243-55. Epub 2005 Oct 25.

33.

The cell biology of Hermansky-Pudlak syndrome: recent advances.

Di Pietro SM, Dell'Angelica EC.

Traffic. 2005 Jul;6(7):525-33. Review.

34.

Normal lytic granule secretion by cytotoxic T lymphocytes deficient in BLOC-1, -2 and -3 and myosins Va, VIIa and XV.

Bossi G, Booth S, Clark R, Davis EG, Liesner R, Richards K, Starcevic M, Stinchcombe J, Trambas C, Dell'Angelica EC, Griffiths GM.

Traffic. 2005 Mar;6(3):243-51.

35.

The building BLOC(k)s of lysosomes and related organelles.

Dell'Angelica EC.

Curr Opin Cell Biol. 2004 Aug;16(4):458-64. Review.

PMID:
15261680
37.

Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6.

Di Pietro SM, Falcón-Pérez JM, Dell'Angelica EC.

Traffic. 2004 Apr;5(4):276-83.

38.

The Hermansky-Pudlak syndrome 3 (cocoa) protein is a component of the biogenesis of lysosome-related organelles complex-2 (BLOC-2).

Gautam R, Chintala S, Li W, Zhang Q, Tan J, Novak EK, Di Pietro SM, Dell'Angelica EC, Swank RT.

J Biol Chem. 2004 Mar 26;279(13):12935-42. Epub 2004 Jan 12.

39.

Melanosome biogenesis: shedding light on the origin of an obscure organelle.

Dell'Angelica EC.

Trends Cell Biol. 2003 Oct;13(10):503-6. Review.

PMID:
14507476
40.

Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1).

Li W, Zhang Q, Oiso N, Novak EK, Gautam R, O'Brien EP, Tinsley CL, Blake DJ, Spritz RA, Copeland NG, Jenkins NA, Amato D, Roe BA, Starcevic M, Dell'Angelica EC, Elliott RW, Mishra V, Kingsmore SF, Paylor RE, Swank RT.

Nat Genet. 2003 Sep;35(1):84-9. Epub 2003 Aug 17.

41.

Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4.

Nazarian R, Falcón-Pérez JM, Dell'Angelica EC.

Proc Natl Acad Sci U S A. 2003 Jul 22;100(15):8770-5. Epub 2003 Jul 7.

42.

The molecular machinery for the biogenesis of lysosome-related organelles: lessons from Hermansky-Pudlak syndrome.

Starcevic M, Nazarian R, Dell'Angelica EC.

Semin Cell Dev Biol. 2002 Aug;13(4):271-8. Review.

PMID:
12243726
43.

BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules.

Falcón-Pérez JM, Starcevic M, Gautam R, Dell'Angelica EC.

J Biol Chem. 2002 Aug 2;277(31):28191-9. Epub 2002 May 17.

44.

The pallidin (Pldn) gene and the role of SNARE proteins in melanosome biogenesis.

Falcón-Pérez JM, Dell'Angelica EC.

Pigment Cell Res. 2002 Apr;15(2):82-6. Review.

PMID:
11936273
45.

Intracellular cycling of lysosomal enzyme receptors: cytoplasmic tails' tales.

Dell'Angelica EC, Payne GS.

Cell. 2001 Aug 24;106(4):395-8. Review. No abstract available.

46.

Clathrin-binding proteins: got a motif? Join the network!

Dell'Angelica EC.

Trends Cell Biol. 2001 Aug;11(8):315-8. Review.

PMID:
11489622
47.

Defects in the cappuccino (cno) gene on mouse chromosome 5 and human 4p cause Hermansky-Pudlak syndrome by an AP-3-independent mechanism.

Gwynn B, Ciciotte SL, Hunter SJ, Washburn LL, Smith RS, Andersen SG, Swank RT, Dell'Angelica EC, Bonifacino JS, Eicher EM, Peters LL.

Blood. 2000 Dec 15;96(13):4227-35.

PMID:
11110696
48.

Lysosome-related organelles.

Dell'Angelica EC, Mullins C, Caplan S, Bonifacino JS.

FASEB J. 2000 Jul;14(10):1265-78. Review.

PMID:
10877819
49.

Trafficking of major histocompatibility complex class II molecules in human B-lymphoblasts deficient in the AP-3 adaptor complex.

Caplan S, Dell'Angelica EC, Gahl WA, Bonifacino JS.

Immunol Lett. 2000 May 1;72(2):113-7.

PMID:
10841946
50.

A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation.

Shotelersuk V, Dell'Angelica EC, Hartnell L, Bonifacino JS, Gahl WA.

Am J Med. 2000 Apr 1;108(5):423-7. No abstract available.

PMID:
10759101

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